NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
Uniprot Description
GPR143: Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand- dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. Defects in GPR143 are the cause of albinism ocular type 1 (OA1); also known as Nettleship-Falls type ocular albinism. Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. Defects in GPR143 are the cause of Nystagmus congenital X-linked type 6 (NYS6). It is a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Belongs to the G-protein coupled receptor OA family.
Protein type: Receptor, GPCR; Membrane protein, multi-pass; Membrane protein, integral; GPCR, OA family
Chromosomal Location of Human Ortholog: Xp22.3
Cellular Component: Golgi apparatus; membrane; lysosomal membrane; cytoplasm; apical plasma membrane; melanosome membrane; melanosome; integral to membrane; plasma membrane
Molecular Function: G-protein coupled receptor activity; protein binding; dopamine binding
Biological Process: G-protein coupled receptor protein signaling pathway; phosphoinositide-mediated signaling; visual perception; melanosome organization and biogenesis; neuropeptide signaling pathway; melanosome localization; regulation of calcium-mediated signaling; signal transduction; eye pigment biosynthetic process; melanosome transport
Disease: Nystagmus 6, Congenital, X-linked; Albinism, Ocular, Type I
Research Articles on GPR143
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Product Notes
The GPR143 gpr143 (Catalog #AAA9403151) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The GPR143 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's GPR143 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Researchers should empirically determine the suitability of the GPR143 gpr143 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "GPR143, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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